Canonical Allele Identifier: PA2830146872
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 498946
ClinVar RCV Id: RCV000595402 RCV001367018
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Asn260Ile
CA2189364
NM_057166.5:c.779A>T